Specific language impairment (SLI) is diagnosed in children who exhibit significant language deficits despite adequate educational opportunity and normal nonverbal intelligence. SLI2 represents a locus influencing language-related traits on chromosome 19q (SLI Consortium, 2002, SLI Consortium, 2004). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).

Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by Newbury et al., 2009). Genetic Heterogeneity of Specific Language Impairment Multiple loci for specific language impairment have been mapped, including SLI1 on chromosome 16q; SLI2 (606712) on chromosome 19q; SLI3 (607134) on chromosome 13q21; SLI4 (612514) on chromosome 7q35-36; and SLI5 (615432), caused by mutation in the TM4SF20 gene (615404) on chromosome 2q36.